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are left in limbo waiting for the NHS to do something, which, quite frankly, isn’t happening.”
Ms Hoes said there needed to be more awareness and research into DRPLA.
Emma Davies, 36, from Bridgend, was diagnosed with the condition aged 28, after she started having seizures.
“I was the only one in my family with it,” she said.
“I managed to deal with it. When I was diagnosed I had a few episodes, but I’ve been quite lucky.”
“I didn’t have children, so that has been one positive,” she added.
Zoe Lock, 47, from Pontypridd, is a single mum to 28-year-old Carys who was diagnosed with DRPLA when she was 19.
Ms Lock said she struggled to get a diagnosis for her daughter, who had been experiencing symptoms for years.
“She had a diagnosis of epilepsy but the medication wasn’t working. So I decided to push on and try to find out why,” she said.
Ms Lock said she wasn’t sure if DRPLA was hereditary, as nobody else in her family has the condition.
“Is it something that happens and it’s random? Or is it from ancestors? It’s just unfathomable to me,” she said.
From the heartbreaking story of Rachel Cowley and her daughter Jessica to the struggles faced by other families in south Wales affected by DRPLA, this article sheds light on a rare disease cluster that has impacted the lives of many. The lack of awareness, research, and available treatments for DRPLA highlighted in the article underscores the urgent need for more support and resources for those affected by this devastating condition.
The personal accounts of Zoe Hoes, Emma Davies, and Zoe Lock provide additional perspective on the challenges faced by individuals and families dealing with DRPLA. From the financial burden of testing to the difficulty of obtaining a diagnosis, their stories emphasize the complex and often overwhelming nature of living with a rare disease.
Overall, this article serves as a poignant reminder of the importance of raising awareness, increasing research efforts, and providing better support for those affected by rare diseases like DRPLA. By sharing these stories, we can hope to inspire greater understanding, empathy, and action in addressing the needs of individuals and families impacted by these conditions
Read the full article from The BBC here: Read More
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